CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy
Copyright policy )CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy
A homozygous mutation of the CNTNAP2 gene has been associated with a syndrome of focal epilepsy, mental retardation, language regression and other neuropsychiatric problems in children of the Old Order Amish community. Here we report genomic rearrangements resulting in haploinsufficiency of the CNTNAP2 gene in association with epilepsy and schizophrenia. Genomic deletions of varying sizes affecting the CNTNAP2 gene were identified in three non-related Caucasian patients. In contrast, we did not observe any dosage variation for this gene in 512 healthy controls. Moreover, this genomic region has not been identified as showing large-scale copy number variation. Our data thus confirm an association of CNTNAP2 to epilepsy outside the Old Order Amish population and suggest that dosage alteration of this gene may lead to a complex phenotype of schizophrenia, epilepsy and cognitive impairment.
- Columbia University United States
- University of Groningen Netherlands
- Radboud University Nijmegen Netherlands
- King’s University United States
- University Medical Center Groningen Netherlands
Adult, Male, NCMLS 1: Immunity, infection and tissue repair, CNTNAP2, Gene Dosage, Nerve Tissue Proteins, NCMLS 6: Genetics and epigenetic pathways of disease, Polymorphism, Single Nucleotide, DISEASE, NCMLS 5: Membrane transport and intracellular motility, UMCN 5.1: Genetic defects of metabolism, IGMD 3: Genomic disorders and inherited multi-system disorders, ONCOL 1: Hereditary cancer and cancer-related syndromes, HUMAN GENOME, Humans, Genetic Predisposition to Disease, In Situ Hybridization, Fluorescence, LA-TOURETTE-SYNDROME, Epilepsy, K+ CHANNELS, IGMD 9: Renal disorder, copy number variation, Membrane Proteins, BIPOLAR DISORDER, Middle Aged, POLYMORPHISM, FAMILY, schizophrenia, COPY-NUMBER, ONCOL 3: Translational research, Schizophrenia, epilepsy, Female, IGMD 5: Health aging / healthy living, MYELINATED AXONS, Sequence Analysis, MENTAL-RETARDATION, Chromosomes, Human, Pair 7
Adult, Male, NCMLS 1: Immunity, infection and tissue repair, CNTNAP2, Gene Dosage, Nerve Tissue Proteins, NCMLS 6: Genetics and epigenetic pathways of disease, Polymorphism, Single Nucleotide, DISEASE, NCMLS 5: Membrane transport and intracellular motility, UMCN 5.1: Genetic defects of metabolism, IGMD 3: Genomic disorders and inherited multi-system disorders, ONCOL 1: Hereditary cancer and cancer-related syndromes, HUMAN GENOME, Humans, Genetic Predisposition to Disease, In Situ Hybridization, Fluorescence, LA-TOURETTE-SYNDROME, Epilepsy, K+ CHANNELS, IGMD 9: Renal disorder, copy number variation, Membrane Proteins, BIPOLAR DISORDER, Middle Aged, POLYMORPHISM, FAMILY, schizophrenia, COPY-NUMBER, ONCOL 3: Translational research, Schizophrenia, epilepsy, Female, IGMD 5: Health aging / healthy living, MYELINATED AXONS, Sequence Analysis, MENTAL-RETARDATION, Chromosomes, Human, Pair 7
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